Müllerian Agenesis: Presenting as an Isolated Rudimentary Uterus

Introduction

Primary amenorrhea is defined as absence of menses at 15 years of age with normal growth and sexual characteristics.¹ Chromosomal anomalies account for about 50% of the causes.² The second most common etiology is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. This rare (about 1 in 5,000 female births) entity describes specific malformations of the Müllerian duct, resulting in absence or hypoplasia of the uterus and fallopian tubes with variable malformations of the upper two thirds of the vagina. These findings can be isolated (type I) or associated with renal, skeletal, auditory or cardiac anomalies (type II, known as Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, or MURCS).³ Otherwise, patients have normal female karyotype and functional ovaries.^3,4 Isolated uterine anomaly (rudimentary uterus) is a rare variant of the syndrome and is reported here.

Case Report

This 16-year-old girl was seen for evaluation of absent menses. The development of her breast, pubic hair, axillary hair and external genitalia were also normal. Her review of systems, past-medical history and family history were otherwise unremarkable. The patient had normal height, weight and sexual characteristics (sexual maturity rating V). The serum levels of FSH, LH, estradiol, prolactin, testosterone and TSH were all normal. Chromosomal analysis showed normal female karyotype (46XX). Pelvic and abdominal ultrasound and MRI revealed isolated uterine anomaly (rudimentary uterus; size: 1.73 cm x 1.22 cm x 1.70 cm), Fig. 1-2. The ovaries and vaginal canal were normal (Fig.1-2). The patient had no associated renal, skeletal or other anomalies and she was counseled on the option of uterine transplantation along with her family.

Figure 1.

Trans-abdominal sagittal ultrasound of the lower pelvis. Panel A: Vagina (V) and rudimentary uterus (RU) (1.73 x 1.22 x 1.70 cm) located behind the urinary bladder (B). Panel B: Left ovary (LO) with measurements, 2.31 x 1.56 x 1.62 cm. Panel C: Right ovary (RO) with measurements, 2.7cm x 2.18 cm x 2.55 cm (2).

Figure 2.

MRI of the pelvis. Panel A: Axial T1 weighted MRI at the level of the upper vagina B=urinary bladder, V=vagina, R=rectum. Panel B: Axial T2 weighted MRI of the lower pelvis. RO= right ovary, LO= left ovary, C=cyst. Panel C: Mid sagittal T2 weighted MRI of the lower pelvis, vagina and small rudimentary uterus, small amounts of free pelvic fluid, most likely after ovulation. B=urinary bladder, RU=rudimentary uterus. Panel D: Coronal T2-STIR MRI showing the ovaries. RO=right ovary, LO= left ovary, R=rectum.

Discussion

MRKH syndrome was first described by Mayer et al. in 1829, as Müllerian agenesis. Subsequently, Rokitansky and Küster defined the syndrome as absence of the uterus, fallopian tubes and upper vagina. The ovaries and external genitalia are characteristically normal.³ Magnetic resonance is considered as the most specific diagnostic tool.⁵

Sixteen patients with the syndrome were reported in Saudi Arabia; four had other anomalies (two had renal anomalies, one had skeletal anomalies and one had hyperprolactinemia).^6,7 A case was reported in United Arab Emirates, describing MRKH patient with renal abnormality and utero-ovarian inguinal hernia.⁸ Sporadic reports from Oman and Kuwait also pointed to associated anomalies, such as renal diseases.^9,10 The treatment option for these patients is neovagina, which gives opportunity for a normal sexual life.^3,4 Surrogate pregnancy is the only method for having a child.⁴ The outcome of surrogate pregnancies with MRKH patients as the genetic mothers suggests the syndrome is a polygenic (multifactorial) trait.⁶

Screening newly diagnosed patients for psychological distress identifies individuals who may benefit from long-term counseling.⁹ MRKH syndrome has a lasting negative impact on affected women (phobic anxiety, psychoticism, depression and anxiety) and self-esteem (body image, identity and femininity impairment).^11,12

In animal model, there was successful pregnancy in a rabbit with transplanted uterus.¹³ Successful human uterine transplantations were reported recently.^14-16 One of the reported recipients had menarche 20 days after the transplant.¹⁴ The described patient with isolated uterine anomaly (rudimentary uterus) is the best candidate for this intervention.

Conclusion

This reported case represents an important variant of the Müllerian agenesis syndrome and raises several challenges in management. These include lifelong supportive counseling, corrective neovagina surgery, the possibility of surrogate pregnancy and the potential of undergoing successful human uterine transplantation.